Q981P (p.Gln981Pro) variant of RAG1 (P15918)
Q981P (p.Gln981Pro) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Combined immunodeficiency due to partial RAG1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Q981P (p.Gln981Pro) variant details
- p.Gln981Pro
- rs104894288
- ClinGen CA122910
- ClinVar RCV000014041
- UniProt VAR 025988
- Pathogenic
- Combined immunodeficiency due to partial RAG1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.70
- CADD 26.30
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic (Combined immunodeficiency due to partial RAG1 deficiency)
- EBI: Pathogenic (in T-CMVA)
- UniProt: Pathogenic (in T-CMVA)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. (PMID 16276422)